4 results found
Article
Niemann-Pick disease type C
Niemann-Pick disease type c (NPD-C or just NPC) is an autosomal recessive lysosomal storage disorder classed under Niemann-Pick disease on account of clinical similarities, namely hepatosplenomegaly and variable involvement of the central nervous system.
Epidemiology
NPD-C is inherited as an ...
Article
Haemorrhagic shock and encephalopathy syndrome
Haemorrhagic shock and encephalopathy syndrome (HSES) is a rare paediatric encephalopathy syndrome with a high mortality rate.
Epidemiology
Haemorrhagic shock and encephalopathy syndrome is considered rare, although the exact global incidence and prevalence is not known. The condition occurs i...
Article
Sickle cell disease
Sickle cell disease (SCD) (historically also known as drepanocytosis) is a hereditary (autosomal recessive) condition resulting in the formation of abnormal haemoglobin (a haemoglobinopathy), which manifests as multisystem ischaemia and infarction, as well as haemolytic anaemia.
Haemoglobin SC...
Article
Syphilis
Syphilis is the result of infection with the gram-negative spirochete Treponema pallidum, subspecies pallidum. It results in a heterogeneous spectrum of disease with many systems that can potentially be involved, which are discussed separately.
Epidemiology
Despite the discovery of penicillin...